日期:
2020 年 — 2026 年
2020
2021
2022
2023
2024
2025
2026
影响因子:

A Germline Heterozygous Dominant Negative IKZF2 Variant Causing Syndromic Primary Immune Regulatory Disorder and ICHAD

一种生殖系杂合显性负性IKZF2变异导致综合征性原发性免疫调节障碍和ICHAD

Henry Y Lu ,Maryam Vaseghi-Shanjani ,Avery J Lam ,Mehul Sharma ,Arezoo Mohajeri ,Leandro B R Silva ,Jana Gillies ,Gui Xiang Yang ,Susan Lin ,Maggie P Fu ,Areesha Salman ,Ronak Rahmanian ,Linlea Armstrong ,Jessica Halparin ,Connie L Yang ,Mark Chilvers ,Erika Henkelman ,Wingfield Rehmus ,Douglas Morrison ,Audi Setiadi ,Sara Mostafavi ,Michael S Kobor ,Frederick K Kozak ,Catherine M Biggs ,Clara van Karnebeek ,Kyla J Hildebrand ,Stuart E Turvey

Mutations in MAST1 Cause Mega-Corpus-Callosum Syndrome with Cerebellar Hypoplasia and Cortical Malformations

MAST1基因突变导致巨胼胝体综合征伴小脑发育不全和皮质畸形

Ratna Tripathy ,Ines Leca ,Tessa van Dijk ,Janneke Weiss ,Bregje W van Bon ,Maria Christina Sergaki ,Thomas Gstrein ,Martin Breuss ,Guoling Tian ,Nadia Bahi-Buisson ,Alexander R Paciorkowski ,Alistair T Pagnamenta ,Andrea Wenninger-Weinzierl ,Maria Fernanda Martinez-Reza ,Lukas Landler ,Stefano Lise ,Jenny C Taylor ,Gaetano Terrone ,Giuseppina Vitiello ,Ennio Del Giudice ,Nicola Brunetti-Pierri ,Alessandra D'Amico ,Alexandre Reymond ,Norine Voisin ,Jonathan A Bernstein ,Ellyn Farrelly ,Usha Kini ,Thomas A Leonard ,Stéphanie Valence ,Lydie Burglen ,Linlea Armstrong ,Susan M Hiatt ,Gregory M Cooper ,Kimberly A Aldinger ,William B Dobyns ,Ghayda Mirzaa ,Tyler Mark Pierson ,Frank Baas ,Jamel Chelly ,Nicholas J Cowan ,David Anthony Keays

De Novo Mutations in EBF3 Cause a Neurodevelopmental Syndrome

EBF3基因的新生突变导致神经发育综合征

Hannah Sleven ,Seth J Welsh ,Jing Yu ,Mair E A Churchill ,Caroline F Wright ,Alex Henderson ,Rita Horvath ,Julia Rankin ,Julie Vogt ,Alex Magee ,Vivienne McConnell ,Andrew Green ,Mary D King ,Helen Cox ,Linlea Armstrong ,Anna Lehman ,Tanya N Nelson ,Penny Clouston ,James Hagman ,Andrea H Németh

Germline loss-of-function mutations in LZTR1 predispose to an inherited disorder of multiple schwannomas

LZTR1基因的种系功能缺失突变会导致多发性神经鞘瘤的遗传性疾病。

Arkadiusz Piotrowski,Jing Xie,Ying F Liu,Andrzej B Poplawski,Alicia R Gomes,Piotr Madanecki,Chuanhua Fu,Michael R Crowley,David K Crossman,Linlea Armstrong,Dusica Babovic-Vuksanovic,Amanda Bergner,Jaishri O Blakeley,Andrea L Blumenthal,Molly S Daniels,Howard Feit,Kathy Gardner,Stephanie Hurst,Christine Kobelka,Chung Lee,Rebecca Nagy,Katherine A Rauen,John M Slopis,Pim Suwannarat,Judith A Westman,Andrea Zanko,Bruce R Korf,Ludwine M Messiaen

Detection of pathogenic copy number variants in children with idiopathic intellectual disability using 500 K SNP array genomic hybridization

使用 500 K SNP 阵列基因组杂交检测特发性智力障碍儿童的致病拷贝数变异

Jm Friedman, Shelin Adam, Laura Arbour, Linlea Armstrong, Agnes Baross, Patricia Birch, Cornelius Boerkoel, Susanna Chan, David Chai, Allen D Delaney, Stephane Flibotte, William T Gibson, Sylvie Langlois, Emmanuelle Lemyre, H Irene Li, Patrick MacLeod, Joan Mathers, Jacques L Michaud, Barbara C McGi